Canonical Allele Identifier: CA877807091

Gene: IL2RG

Linked Data

• dbSNP Id: rs1387917577
• gnomAD v3: X-71109164-GAC-G
• gnomAD v4: X-71109164-GAC-G
• MyVariant Identifiers: chrX:g.70329015_70329016del (hg19) ; chrX:g.71109165_71109166del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71109166_71109167del , CM000685.2:g.71109166_71109167del	GRCh38
NC_000023.10:g.70329016_70329017del , CM000685.1:g.70329016_70329017del	GRCh37
NC_000023.9:g.70245741_70245742del	NCBI36
NG_009088.1:g.7388_7389del , LRG_150:g.7388_7389del
NG_021141.1:g.2623_2624del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.757+62_757+63del	ENSP00000421262.2:n.757+62_757+63del
ENST00000696903.1:n.808+62_808+63del
ENST00000374202.7:c.757+62_757+63del MANE Select	ENSP00000363318.3:n.757+62_757+63del
ENST00000642473.1:n.1121+62_1121+63del
ENST00000644022.1:n.1023+62_1023+63del
ENST00000644708.1:n.1163+62_1163+63del
ENST00000644911.1:n.1163+62_1163+63del
ENST00000645266.1:c.757+62_757+63del	ENSP00000493734.1:n.757+62_757+63del
ENST00000645518.1:c.757+62_757+63del	ENSP00000493986.1:n.757+62_757+63del
ENST00000646106.1:c.757+62_757+63del	ENSP00000496437.1:n.757+62_757+63del
ENST00000646505.1:c.757+62_757+63del	ENSP00000496673.1:n.757+62_757+63del
ENST00000647492.1:c.757+62_757+63del	ENSP00000495340.1:n.757+62_757+63del
ENST00000276110.6:n.1350+62_1350+63del
ENST00000374188.7:c.41+62_41+63del	ENSP00000363303.3:n.41+62_41+63del
ENST00000374202.6:c.757+62_757+63del	ENSP00000363318.2:n.757+62_757+63del
ENST00000456850.6:c.187+62_187+63del	ENSP00000388967.2:n.187+62_187+63del
ENST00000464642.5:c.625+62_625+63del	ENSP00000425233.1:n.625+62_625+63del
ENST00000482750.5:c.170+62_170+63del
ENST00000512747.3:n.684+62_684+63del
NM_000206.2:c.757+62_757+63del , LRG_150t1:c.757+62_757+63del	NP_000197.1:n.757+62_757+63del
NM_000206.3:c.757+62_757+63del MANE Select	NP_000197.1:n.757+62_757+63del